Abstract
AbstractBackground:Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited.Case presentation:We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (Conclusions:We concluded that the mutations affect the structural stability of the protein to some extent.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Cited by
30 articles.
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